Adaptor Protein 1 Gene
2001 cloned the arh gene after performing linkage analysis in families suffering from autosomal recessive hypercholesterolemia arh.
Adaptor protein 1 gene. Diseases associated with shc1 include multiple endocrine neoplasia type iia and sclerosing hepatic carcinoma among its related pathways are signaling by gpcr and ret signaling gene ontology go annotations related to this gene include protein tyrosine kinase activity and phospholipid binding. The protein encoded by this gene is one of the signaling and transforming proteins containing src homology 2 and 3 sh2 and sh3 domains. Shc1 shc adaptor protein 1 is a protein coding gene. Hsa circ 0136666 promotes the proliferation and invasion of colorectal cancer through mir 136 sh2b1 axis.
Acts as an activator of the canonical nf kappa b pathway and drive the production of proinflammatory cytokines. While human nck 1 gene has been localised to the 3q21 locus of chromosome 3 the nck 2 gene can be found on chromosome 2 at the 2q12 locus. 603813 that mapped the arh locus to a 1 cm interval on chromosome 1p35 the gene encodes a 308 amino acid protein containing a 170 amino acid phosphotyrosine binding ptb domain which shares considerable sequence similarity with the ptb domains. Sh2b adapter protein 1 sh2 domain containing protein 1b sh2 domain containing putative adapter sh2 b sh2 b signaling protein pro rich ph and sh2 domain containing signaling mediator.
This gene encodes the alpha 1 adaptin subunit of the adaptor protein 2 ap2 adaptors complex found in clathrin coated vesicles the ap 2 complex is a heterotetramer consisting of two large adaptins alpha or beta a medium adaptin mu and a small adaptin sigma. Exon 15 contains the 3 prime utr. Promotes the antigen ag presenting and priming function of dendritic cells via the canonical nf kappa b pathway pubmed 21048106. Ap 2 complex subunit alpha 1 is a protein that in humans is encoded by the ap2a1 gene.
Pik3ap1 phosphoinositide 3 kinase adaptor protein 1 is a protein coding gene. Gene references into functions. In concert with myo18a and cdc42bpa cdc42bpb is involved in modulating lamellar actomyosin retrograde flow that is crucial to cell protrusion and. Exons 2 through 14 span more than 294 kb and contain the coding region for the major dab1 isoform.
Interaction i subunit structure i. Ensmusg00000029254 expressed in bone marrow macrophage and 88 other tissues. Signal transducing adaptor protein 1. 2003 determined that the dab1 gene spans more than 1 2 mb.
Q9jm90 baseline and differential. It is located in the cytoplasm and is an adaptor protein. The other two isoforms p52shc and p46shc link activated receptor tyrosine kinases to the ras pathway by recruitment of the grb2.